The Impact of Base Excision DNA Repair in Age-Related Neurodegenerative Diseases

The Impact of Base Excision DNA Repair in Age-Related Neurodegenerative Diseases. Giovana S. Leandro, Peter Sykora, Vilhelm A. Bohr, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Available online 4 January 2015, ISSN 0027-5107, http://dx.doi.org/10.1016/j.mrfmmm.2014.12.011.

Grant Alert: Modeling Friedreich Ataxia with Patient iPSC-derived Neurons Medizinische Universitt Innsbruck Austrian Science Fund FWF award

Grant Alert: Modeling Friedreich Ataxia with Patient iPSC-derived Neurons Medizinische Universitt Innsbruck Austrian Science Fund FWF award . Source: GRIST Grant #P_26886_B19, Organisation: Medizinische Universität Innsbruck (Austrian Science Fund FWF award)

The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases

The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases. Al-Mahdawi S, Virmouni SA, Pook MA; Frontiers in neuroscience 8: 2014 pg 397, doi: 10.3389/fnins.2014.00397

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia. Igoillo-Esteve M, Gurgul-Convey E, Hu A, Romagueira Bichara Dos Santos L, Abdulkarim B, Chintawar S, Marselli L, Marchetti P, Jonas J, Eizirik DL, Pandolfo M, Cnop M; Hum. Mol. Genet. (2014) doi: 10.1093/hmg/ddu745

Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity

Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity. Frida Loría, Javier Díaz-Nido, Neurobiology of Disease, Available online 29 December 2014, ISSN 0969-9961, http://dx.doi.org/10.1016/j.nbd.2014.12.017.

Findings confirm a detrimental effect of frataxin silencing, not only for astrocytes, but also for neuron-glia interactions, underlining the need to take into account the role of non-cell autonomous processes in FA.

Selective dendritic susceptibility to bioenergetic and redox perturbations in cortical neurons

Selective dendritic susceptibility to bioenergetic and redox perturbations in cortical neurons. Philip Hasel, Sean Mckay, Jing Qiu, Giles E. Hardingham; Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 22 December 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.12.021.

Deregulation of glutathione homeostasis and other antioxidant systems is implicated in the aetiology of several neurodegenerative disorders associated with dendritic pathologies, including: Alzheimer's disease, Huntington's disease, ALS Friedreich's ataxia, and Parkinson's disease, and activation of GSH pathway enzymes, particularly in astrocytes, is a potential therapeutic strategy for combating oxidative stress in the brain.

Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases

Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases. Annita Kolnagou, Christina N Kontoghiorghe, and George J Kontoghiorghes; World J Methodol. Dec 26, 2014; 4(4): 197–218. Published online Dec 26, 2014. doi: 10.5662/wjm.v4.i4.197

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells. Alessandra Rufini, Francesca Cavallo, Ivano Condo’, Silvia Fortuni, Gabriella De Martino, Ottaviano Incani, Almerinda Di Venere, Monica Benini, Damiano Sergio Massaro, Gaetano Arcuri, Dario Serio, Florence Malisan, Roberto Testi; Neurobiology of Disease, Available online 27 December 2014, ISSN 0969-9961, http://dx.doi.org/10.1016/j.nbd.2014.12.011.

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Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report

Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report . M. Malenica, M. Kukuruzović, S. Bitanga, G. Krakar, B. Valent, Lj. Cvitanović-Šojat; Paediatr Croat. 2014;58:291-4 DOI: http://dx.doi.org/10.13112/PC.2014.51

The cases of our patients prove that it is not advisable to foresee the clinical course based solely on thenumber of repeats.

Grant Alert: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders

Grant Alert: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders. Christian Speck (Principal Investigator), Till Bartke (Co-Investigator), Richard J Festenstein (Co-Investigator); Source: RCUK Grant #BBM0037601, Organisation: Imperial College London (BBSRC award)

Misregulation of 'heterochromatin' and HP1 is involved in several diseases, including epigenetic diseases such as Friedreich's Ataxia or Facioscapulohumeral muscular dystrophy.